#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FLOT1	10211	broad.mit.edu	37	6	30707947	30707947	+	Silent	SNP	G	G	C			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr6:30707947G>C	ENST00000376389.3	-	8	931	c.711C>G	c.(709-711)gcC>gcG	p.A237A	FLOT1_ENST00000456573.2_Silent_p.A189A|FLOT1_ENST00000470643.1_5'UTR|XXbac-BPG252P9.10_ENST00000607333.1_RNA	NM_005803.2	NP_005794.1	P41440	S19A1_HUMAN	flotillin 1	0					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13					Methotrexate(DB00563)|Pralatrexate(DB06813)	GAAGCTGATAGGCCAGGTCAG	0.557																																						uc003nrm.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(709-711)gcC>gcG		Homo sapiens flotillin 1 (FLOT1), mRNA.							93.0	70.0	78.0					6																	30707947		1511	2709	4220	SO:0001819	synonymous_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30707947G>C	AF089750	CCDS4688.1	6p21.3	2010-02-17			ENSG00000137312	ENSG00000137312			3757	protein-coding gene	gene with protein product		606998					Standard	XM_005248780		Approved		uc003nrm.3	O75955	OTTHUMG00000031151	ENST00000376389.3:c.711C>G	6.37:g.30707947G>C			Somatic				FLOT1_uc011dmr.2_Silent_p.A189A	p.A237A	NM_005803	NP_005794	WXS	Illumina GAIIx	Phase_I	O75955	FLOT1_HUMAN			7	875	-			237					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	ENST00000376389.3	37	c.711C>G	CCDS4688.1																																																																																				0.557	FLOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076276.2			5	23	0	0	0	1	0	5	23				
ATM	472	broad.mit.edu	37	11	108216586	108216586	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr11:108216586G>T	ENST00000452508.2	+	59	8724	c.8535G>T	c.(8533-8535)tgG>tgT	p.W2845C	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.W2845C|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2845	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.W2845*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	CAGCTATTTGGTTTGAGAAGC	0.373			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		1	Substitution - Nonsense(1)	p.W2845*(2)	NS(1)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(8533-8535)tgG>tgT	Genes defective in diseases associated with sensitivity to DNA damaging agents	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.							158.0	162.0	161.0					11																	108216586		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	g.chr11:108216586G>T	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8535G>T	11.37:g.108216586G>T	ENSP00000388058:p.Trp2845Cys	TSP Lung(14;0.12)	Somatic				ATM_uc009yxr.1_Missense_Mutation_p.W2845C|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.W1497C	p.W2845C	NM_000051	NP_000042	WXS	Illumina GAIIx	Phase_I	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	57	8920	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2845			PI3K/PI4K.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.8535G>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737759	0.89573	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.83075	-1.68;-1.68	5.64	5.64	0.86602	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.95242	0.8457	H	0.98333	4.205	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96828	0.9609	10	0.87932	D	0	.	19.6889	0.95989	0.0:0.0:1.0:0.0	.	2845	Q13315	ATM_HUMAN	C	2845	ENSP00000278616:W2845C;ENSP00000388058:W2845C	ENSP00000278616:W2845C	W	+	3	0	ATM	107721796	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.847000	0.99503	2.650000	0.89964	0.650000	0.86243	TGG		0.373	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		98	80	0	0	0	1	0	98	80				
RUFY2	55680	broad.mit.edu	37	10	70164495	70164495	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr10:70164495A>T	ENST00000602465.1	-	2	211	c.111T>A	c.(109-111)gaT>gaA	p.D37E	RUFY2_ENST00000342616.4_Missense_Mutation_p.D37E|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000454950.2_Intron|RUFY2_ENST00000399200.2_Missense_Mutation_p.D37E|RUFY2_ENST00000388768.2_Missense_Mutation_p.D72E			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	86						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GATAGTCAGAATCCAAAGTGC	0.393																																						uc001job.3																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(214-216)gaT>gaA		Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.							134.0	132.0	132.0					10																	70164495		1902	4108	6010	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70164495A>T	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.111T>A	10.37:g.70164495A>T	ENSP00000473462:p.Asp37Glu		Somatic				RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Missense_Mutation_p.D37E|RUFY2_uc010qiw.2_Intron|RUFY2_uc001jod.1_Missense_Mutation_p.D37E|RUFY2_uc009xpv.1_5'UTR|RUFY2_uc001joe.1_Missense_Mutation_p.D37E	p.D72E	NM_017987	NP_060457	WXS	Illumina GAIIx	Phase_I	Q8WXA3	RUFY2_HUMAN			1	543	-			86					B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.216T>A		.	.	.	.	.	.	.	.	.	.	A	19.49	3.838190	0.71373	.	.	ENSG00000204130	ENST00000388768;ENST00000399200;ENST00000342616	T;T;T	0.12039	2.72;2.72;2.72	4.5	0.733	0.18289	.	0.000000	0.85682	D	0.000000	T	0.27663	0.0680	M	0.64997	1.995	0.80722	D	1	P;P;D;P	0.61697	0.617;0.811;0.99;0.811	B;P;D;P	0.72625	0.207;0.855;0.978;0.855	T	0.00948	-1.1504	10	0.48119	T	0.1	.	8.3991	0.32574	0.6594:0.0:0.3406:0.0	.	37;37;37;72	Q5TC51;Q8WXA3-2;Q8WXA3-4;Q8WXA3-3	.;.;.;.	E	72;37;37	ENSP00000373420:D72E;ENSP00000382151:D37E;ENSP00000341727:D37E	ENSP00000341727:D37E	D	-	3	2	RUFY2	69834501	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.954000	0.40362	0.263000	0.21812	0.459000	0.35465	GAT		0.393	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		6	88	0	0	0	1	0	6	88				
AKR1D1	6718	broad.mit.edu	37	7	137792293	137792293	+	Silent	SNP	C	C	T			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr7:137792293C>T	ENST00000242375.3	+	7	864	c.822C>T	c.(820-822)agC>agT	p.S274S	AKR1D1_ENST00000432161.1_Silent_p.S274S|AKR1D1_ENST00000411726.2_Silent_p.S233S|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	274					androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	TTCCTAAAAGCTTTAATCTTG	0.358																																						uc003vtz.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						c.(820-822)agC>agT		Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.							90.0	89.0	89.0					7																	137792293		2203	4300	6503	SO:0001819	synonymous_variant	6718				C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	g.chr7:137792293C>T	Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.822C>T	7.37:g.137792293C>T			Somatic				AKR1D1_uc011kqf.2_Silent_p.S233S|AKR1D1_uc011kqe.1_Silent_p.S274S|AKR1D1_uc010lmy.1_Non-coding_Transcript	p.S274S	NM_005989	NP_005980	WXS	Illumina GAIIx	Phase_I	P51857	AK1D1_HUMAN			6	909	+			274					A1L4P6|A8K060|B4DPN3|B4DPN8	Silent	SNP	ENST00000242375.3	37	c.822C>T	CCDS5846.1																																																																																				0.358	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341637.1	NM_005989		7	150	0	0	0	1	0	7	150				
LPHN2	23266	broad.mit.edu	37	1	82436030	82436030	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr1:82436030C>G	ENST00000370728.1	+	18	3399	c.2754C>G	c.(2752-2754)caC>caG	p.H918Q	LPHN2_ENST00000370730.1_Missense_Mutation_p.H918Q|LPHN2_ENST00000335786.5_Missense_Mutation_p.H918Q|LPHN2_ENST00000370715.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000394879.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000359929.3_Missense_Mutation_p.H905Q|LPHN2_ENST00000370723.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000370721.1_Missense_Mutation_p.H843Q|LPHN2_ENST00000370713.1_Missense_Mutation_p.H905Q|LPHN2_ENST00000370717.2_Missense_Mutation_p.H918Q|LPHN2_ENST00000370727.1_Missense_Mutation_p.H918Q|LPHN2_ENST00000370725.1_Missense_Mutation_p.H918Q|LPHN2_ENST00000271029.4_Missense_Mutation_p.H918Q|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.H905Q			O95490	LPHN2_HUMAN	latrophilin 2	918					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GACTTCTACACTTTTTCTTTT	0.353																																						uc001dit.4																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(2713-2715)caC>caG		Homo sapiens latrophilin 2 (LPHN2), mRNA.							148.0	146.0	147.0					1																	82436030		2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82436030C>G	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2754C>G	1.37:g.82436030C>G	ENSP00000359763:p.His918Gln		Somatic				LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.H905Q|LPHN2_uc001div.3_Missense_Mutation_p.H905Q|LPHN2_uc009wcd.3_Missense_Mutation_p.H905Q|LPHN2_uc001diw.3_Missense_Mutation_p.H489Q|LPHN2_uc009wce.1_5'UTR	p.H905Q	NM_012302	NP_036434	WXS	Illumina GAIIx	Phase_I	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	14	2896	+			918					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.2715C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.48|15.48	2.846504|2.846504	0.51164|0.51164	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.46063|.	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88|.	5.72|5.72	3.85|3.85	0.44370|0.44370	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69531|0.69531	0.3121|0.3121	M|M	0.88241|0.88241	2.94|2.94	0.52501|0.52501	D|D	0.999959|0.999959	D;D;D|.	0.65815|.	0.995;0.987;0.991|.	D;P;D|.	0.68765|.	0.96;0.833;0.96|.	T|T	0.74281|0.74281	-0.3716|-0.3716	10|5	0.59425|.	D|.	0.04|.	.|.	9.0623|9.0623	0.36442|0.36442	0.0:0.7804:0.0:0.2196|0.0:0.7804:0.0:0.2196	.|.	905;905;905|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	Q|S	843;918;918;918;918;905;905;905;905;905;918;905;918;918|786	ENSP00000359756:H843Q;ENSP00000359763:H918Q;ENSP00000359765:H918Q;ENSP00000359762:H918Q;ENSP00000359760:H918Q;ENSP00000359758:H905Q;ENSP00000353006:H905Q;ENSP00000359750:H905Q;ENSP00000359748:H905Q;ENSP00000322270:H905Q;ENSP00000359752:H918Q;ENSP00000378344:H905Q;ENSP00000271029:H918Q;ENSP00000337306:H918Q|.	ENSP00000271029:H918Q|.	H|T	+|+	3|2	2|0	LPHN2|LPHN2	82208618|82208618	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.445000|1.445000	0.35079|0.35079	1.418000|1.418000	0.47098|0.47098	0.591000|0.591000	0.81541|0.81541	CAC|ACT		0.353	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302		43	69	0	0	0	1	0	43	69				
SUV420H1	51111	broad.mit.edu	37	11	67925581	67925581	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr11:67925581G>C	ENST00000304363.4	-	11	2585	c.2232C>G	c.(2230-2232)agC>agG	p.S744R		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	744					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTAACTTGATGCTTATTTTGG	0.368																																						uc001onm.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.(2230-2232)agC>agG		Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.							194.0	194.0	194.0					11																	67925581		2200	4294	6494	SO:0001583	missense	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925581G>C	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2232C>G	11.37:g.67925581G>C	ENSP00000305899:p.Ser744Arg		Somatic				SUV420H1_uc009yse.1_Missense_Mutation_p.S330R|SUV420H1_uc001onn.1_Missense_Mutation_p.S572R|SUV420H1_uc009ysf.2_Missense_Mutation_p.S504R	p.S744R	NM_017635	NP_060105	WXS	Illumina GAIIx	Phase_I	Q4FZB7	SV421_HUMAN			10	2488	-			744					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	37	c.2232C>G	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533144	0.64972	.	.	ENSG00000110066	ENST00000304363	T	0.61859	0.07	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.68430	0.3000	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.72211	-0.4359	10	0.87932	D	0	-23.5464	18.6897	0.91578	0.0:0.0:1.0:0.0	.	744	Q4FZB7	SV421_HUMAN	R	744	ENSP00000305899:S744R	ENSP00000305899:S744R	S	-	3	2	SUV420H1	67682157	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	9.329000	0.96413	2.419000	0.82065	0.313000	0.20887	AGC		0.368	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		4	250	0	0	0	1	0	4	250				
HAPLN1	1404	broad.mit.edu	37	5	82940234	82940234	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr5:82940234C>A	ENST00000274341.4	-	4	1573	c.723G>T	c.(721-723)tgG>tgT	p.W241C		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	241	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	TATCTTTATCCCAAAATCCGT	0.448																																						uc003kim.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(721-723)tgG>tgT		Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.							63.0	69.0	67.0					5																	82940234		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82940234C>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.723G>T	5.37:g.82940234C>A	ENSP00000274341:p.Trp241Cys		Somatic				HAPLN1_uc003kin.3_Missense_Mutation_p.W241C	p.W241C	NM_001884	NP_001875	WXS	Illumina GAIIx	Phase_I	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	2	794	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	241			Link 1.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.723G>T	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911738	0.52439	.	.	ENSG00000145681	ENST00000274341;ENST00000510978	T;T	0.09255	3.0;3.0	5.5	5.5	0.81552	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.049974	0.85682	D	0.000000	T	0.07908	0.0198	N	0.08118	0	0.80722	D	1	P	0.43662	0.814	B	0.42386	0.386	T	0.21690	-1.0238	10	0.87932	D	0	.	14.0021	0.64439	0.0:0.9274:0.0:0.0726	.	241	P10915	HPLN1_HUMAN	C	241	ENSP00000274341:W241C;ENSP00000422592:W241C	ENSP00000274341:W241C	W	-	3	0	HAPLN1	82975990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.092000	0.30927	2.733000	0.93635	0.650000	0.86243	TGG		0.448	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		12	90	0	0	0	1	0	12	90				
DNAH9	1770	broad.mit.edu	37	17	11584043	11584043	+	Missense_Mutation	SNP	C	C	G			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr17:11584043C>G	ENST00000262442.4	+	19	3648	c.3580C>G	c.(3580-3582)Ctg>Gtg	p.L1194V	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1194V	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1194	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTTGCAGGAGCTGCCTGAGAA	0.527																																						uc002gne.3																			0		p.E1193E(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(3580-3582)Ctg>Gtg		Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.							64.0	52.0	56.0					17																	11584043		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11584043C>G	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3580C>G	17.37:g.11584043C>G	ENSP00000262442:p.Leu1194Val		Somatic				DNAH9_uc010coo.3_Missense_Mutation_p.L488V	p.L1194V	NM_001372	NP_001363	WXS	Illumina GAIIx	Phase_I	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	18	3648	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1194			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.3580C>G	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	16.43	3.120361	0.56613	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.33216	1.47;1.42	5.37	3.32	0.38043	.	0.088829	0.47093	D	0.000260	T	0.59528	0.2200	M	0.89095	3.005	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.69030	-0.5253	10	0.87932	D	0	.	12.9572	0.58434	0.0:0.8591:0.0:0.1409	.	1194	Q9NYC9	DYH9_HUMAN	V	1194	ENSP00000262442:L1194V;ENSP00000414874:L1194V	ENSP00000262442:L1194V	L	+	1	2	DNAH9	11524768	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	1.664000	0.37439	1.384000	0.46424	0.563000	0.77884	CTG		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		3	20	0	0	0	1	0	3	20				
INPPL1	3636	broad.mit.edu	37	11	71943766	71943766	+	Silent	SNP	C	C	T			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr11:71943766C>T	ENST00000298229.2	+	15	2013	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	INPPL1_ENST00000538751.1_Silent_p.F361F|INPPL1_ENST00000541756.1_Silent_p.F361F	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	603					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CACACCTCTTCTGGTTTGGGG	0.582																																						uc001osf.3																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1807-1809)ttC>ttT		Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.							92.0	89.0	90.0					11																	71943766		2200	4293	6493	SO:0001819	synonymous_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding	g.chr11:71943766C>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1809C>T	11.37:g.71943766C>T			Somatic				INPPL1_uc001osg.3_Silent_p.F361F	p.F603F	NM_001567	NP_001558	WXS	Illumina GAIIx	Phase_I	O15357	SHIP2_HUMAN			14	1956	+			603					B2RTX5|Q13577|Q13578	Silent	SNP	ENST00000298229.2	37	c.1809C>T	CCDS8213.1																																																																																				0.582	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1	NM_001567		6	93	0	0	0	1	0	6	93				
CCDC178	374864	broad.mit.edu	37	18	30554616	30554616	+	Silent	SNP	T	T	C			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr18:30554616T>C	ENST00000383096.3	-	22	2600	c.2418A>G	c.(2416-2418)acA>acG	p.T806T	CCDC178_ENST00000406524.2_Silent_p.T830T|CCDC178_ENST00000581852.1_Silent_p.T11T|CCDC178_ENST00000403303.1_Silent_p.T806T|CCDC178_ENST00000300227.8_Silent_p.T768T|CCDC178_ENST00000583930.1_Silent_p.T830T|CCDC178_ENST00000579916.1_Silent_p.T126T|CCDC178_ENST00000402325.1_Silent_p.T756T|CCDC178_ENST00000579947.1_Silent_p.T806T			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	806																	CCTGCCACAGTGTGTGCATCC	0.493																																						uc010xbr.1																			0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						c.(2488-2490)acA>acG		Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.							55.0	49.0	51.0					18																	30554616		2203	4300	6503	SO:0001819	synonymous_variant	374864							g.chr18:30554616T>C	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2418A>G	18.37:g.30554616T>C			Somatic				C18orf34_uc010xbq.1_Non-coding_Transcript|C18orf34_uc010dme.1_Silent_p.T270T|C18orf34_uc002kxn.2_Silent_p.T806T|C18orf34_uc010dmf.1_Silent_p.T126T|C18orf34_uc002kxo.2_Silent_p.T768T|C18orf34_uc002kxp.3_Silent_p.T806T	p.T830T	NM_001105528	NP_001098998	WXS	Illumina GAIIx	Phase_I	Q5BJE1	CR034_HUMAN			21	2632	-			806					A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	ENST00000383096.3	37	c.2490A>G	CCDS42424.1																																																																																				0.493	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		12	19	0	0	0	1	0	12	19				
KDM6B	23135	broad.mit.edu	37	17	7752257	7752257	+	Missense_Mutation	SNP	C	C	T	rs200066890	byFrequency	TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr17:7752257C>T	ENST00000448097.2	+	11	2982	c.2651C>T	c.(2650-2652)gCg>gTg	p.A884V	KDM6B_ENST00000254846.5_Missense_Mutation_p.A884V			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	884	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GAGCGCAGGGCGGGCGAAGAG	0.692													C|||	2	0.000399361	0.0	0.0	5008	,	,		5923	0.002		0.0	False		,,,				2504	0.0					uc002giw.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(2650-2652)gCg>gTg		Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.																																				SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752257C>T	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2651C>T	17.37:g.7752257C>T	ENSP00000412513:p.Ala884Val		Somatic				KDM6B_uc002gix.3_Missense_Mutation_p.A186V	p.A884V	NM_001080424	NP_001073893	WXS	Illumina GAIIx	Phase_I	O15054	KDM6B_HUMAN			10	3027	+			884			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.2651C>T		.	.	.	.	.	.	.	.	.	.	C	9.856	1.194921	0.22037	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.77489	-1.1;-1.1	4.47	-0.204	0.13200	.	0.652904	0.15604	N	0.253750	T	0.55878	0.1948	N	0.14661	0.345	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.04013	0.0;0.001	T	0.39781	-0.9597	10	0.27082	T	0.32	-1.1734	7.3404	0.26633	0.0:0.5814:0.257:0.1616	.	884;884	O15054;O15054-1	KDM6B_HUMAN;.	V	884	ENSP00000254846:A884V;ENSP00000412513:A884V	ENSP00000254846:A884V	A	+	2	0	KDM6B	7692982	0.389000	0.25205	0.285000	0.24819	0.954000	0.61252	0.132000	0.15891	0.226000	0.20979	-0.448000	0.05591	GCG		0.692	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		3	12	0	0	0	1	0	3	12				
OR10A7	121364	broad.mit.edu	37	12	55614961	55614961	+	Silent	SNP	G	G	A			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr12:55614961G>A	ENST00000326258.1	+	1	153	c.153G>A	c.(151-153)gtG>gtA	p.V51V		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V51V(1)		endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TTACCAGTGTGGATCTCGCAC	0.398																																						uc010spf.2																			1	Substitution - coding silent(1)	p.V51V(2)	skin(1)	endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(151-153)gtG>gtA		Homo sapiens olfactory receptor, family 10, subfamily A, member 7 (OR10A7), mRNA.							249.0	244.0	246.0					12																	55614961		2203	4300	6503	SO:0001819	synonymous_variant	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55614961G>A	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.153G>A	12.37:g.55614961G>A			Somatic					p.V51V	NM_001005280	NP_001005280	WXS	Illumina GAIIx	Phase_I	Q8NGE5	O10A7_HUMAN			0	153	+			51					Q6IFD5|Q96R19	Silent	SNP	ENST00000326258.1	37	c.153G>A	CCDS31815.1																																																																																				0.398	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			7	266	0	0	0	1	0	7	266				
CDCP1	64866	broad.mit.edu	37	3	45135081	45135081	+	Silent	SNP	G	G	A			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr3:45135081G>A	ENST00000296129.1	-	6	1449	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	439	CUB.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCCACAGGCAGGTGGAGGATG	0.592																																						uc003com.3																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29						c.(1315-1317)Ctg>Ttg		Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.							123.0	115.0	118.0					3																	45135081		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45135081G>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.1315C>T	3.37:g.45135081G>A			Somatic					p.L439L	NM_022842	NP_073753	WXS	Illumina GAIIx	Phase_I	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	5	1450	-			439			CUB.		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.1315C>T	CCDS2727.1																																																																																				0.592	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		8	117	0	0	0	1	0	8	117				
SH3RF3	344558	broad.mit.edu	37	2	110036027	110036027	+	Silent	SNP	G	G	A	rs368091662	byFrequency	TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr2:110036027G>A	ENST00000309415.6	+	5	1332	c.1332G>A	c.(1330-1332)acG>acA	p.T444T		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	444							zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CTACCCCCACGGCTGTCCCAC	0.612													G|||	4	0.000798722	0.0	0.0	5008	,	,		17427	0.0		0.0	False		,,,				2504	0.0041					uc010ywt.1																			0				endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						c.(1330-1332)acG>acA		Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.		G		0,4044		0,0,2022	29.0	33.0	32.0		1332	-1.9	0.0	2		32	1,8359		0,1,4179	no	coding-synonymous	SH3RF3	NM_001099289.1		0,1,6201	AA,AG,GG		0.012,0.0,0.0081		444/883	110036027	1,12403	2022	4180	6202	SO:0001819	synonymous_variant	344558						zinc ion binding	g.chr2:110036027G>A	AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.1332G>A	2.37:g.110036027G>A			Somatic					p.T444T	NM_001099289	NP_001092759	WXS	Illumina GAIIx	Phase_I	Q8TEJ3	SH3R3_HUMAN			4	1332	+			444					A0SDZ7|A8MPR1|Q8NDU1	Silent	SNP	ENST00000309415.6	37	c.1332G>A																																																																																					0.612	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001099289		2	3	0	0	0	1	0	2	3				
EGFL6	25975	broad.mit.edu	37	X	13624630	13624630	+	Missense_Mutation	SNP	T	T	C	rs151014946	byFrequency	TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chrX:13624630T>C	ENST00000361306.1	+	6	910	c.653T>C	c.(652-654)aTa>aCa	p.I218T	EGFL6_ENST00000380602.3_Missense_Mutation_p.I218T	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	218					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TATGACTGTATAGGTAAGATT	0.398																																						uc004cvj.3																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						c.(652-654)aTa>aCa		Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.							193.0	176.0	182.0					X																	13624630		2203	4300	6503	SO:0001583	missense	25975				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding	g.chrX:13624630T>C	AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.653T>C	X.37:g.13624630T>C	ENSP00000355126:p.Ile218Thr		Somatic				EGFL6_uc004cvi.3_Missense_Mutation_p.I218T|EGFL6_uc011mik.1_Missense_Mutation_p.I119T	p.I218T	NM_001167890	NP_001161362	WXS	Illumina GAIIx	Phase_I	Q8IUX8	EGFL6_HUMAN			5	940	+			218					B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	ENST00000361306.1	37	c.653T>C	CCDS14155.1	.	.	.	.	.	.	.	.	.	.	T	4.823	0.152987	0.09185	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	D;D	0.87412	-2.25;-2.25	5.25	4.04	0.47022	EGF-like calcium-binding (1);	0.486110	0.22288	N	0.062034	T	0.70037	0.3178	N	0.04669	-0.19	0.23673	N	0.997146	B;B	0.20887	0.003;0.049	B;B	0.18561	0.006;0.022	T	0.52866	-0.8518	10	0.11182	T	0.66	.	11.1036	0.48190	0.0:0.0:0.1531:0.8469	.	218;218	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	T	218	ENSP00000355126:I218T;ENSP00000369976:I218T	ENSP00000355126:I218T	I	+	2	0	EGFL6	13534551	1.000000	0.71417	0.463000	0.27130	0.017000	0.09413	4.550000	0.60733	0.619000	0.30197	0.432000	0.28606	ATA		0.398	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055800.1	NM_015507		17	180	0	0	0	1	0	17	180				
TRAPPC10	7109	broad.mit.edu	37	21	45483558	45483558	+	Silent	SNP	G	G	A			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr21:45483558G>A	ENST00000291574.4	+	7	1105	c.930G>A	c.(928-930)ctG>ctA	p.L310L		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	310					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GCAGTTACCTGTTCTCTCGCC	0.582																																						uc002zea.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(928-930)ctG>ctA		Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.							122.0	113.0	116.0					21																	45483558		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45483558G>A	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.930G>A	21.37:g.45483558G>A			Somatic				TRAPPC10_uc010gpo.3_Silent_p.L21L	p.L310L	NM_003274	NP_003265	WXS	Illumina GAIIx	Phase_I	P48553	TPC10_HUMAN			6	1099	+			310					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.930G>A	CCDS13704.1																																																																																				0.582	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		4	73	0	0	0	1	0	4	73				
TMEM35	59353	broad.mit.edu	37	X	100349805	100349805	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chrX:100349805G>A	ENST00000372930.4	+	2	647	c.364G>A	c.(364-366)Gga>Aga	p.G122R	TMEM35_ENST00000478351.1_3'UTR|TRMT2B-AS1_ENST00000443801.2_RNA	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	122						cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						TCTGGTGTTTGGAATCCTGCT	0.557																																						uc004egw.3																			0				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						c.(364-366)Gga>Aga		Homo sapiens transmembrane protein 35 (TMEM35), mRNA.							171.0	130.0	144.0					X																	100349805		2203	4300	6503	SO:0001583	missense	59353					cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane		g.chrX:100349805G>A	AK024146	CCDS14478.1	Xq22	2008-02-05			ENSG00000126950	ENSG00000126950			25864	protein-coding gene	gene with protein product							Standard	NM_021637		Approved	FLJ14084	uc004egw.3	Q53FP2	OTTHUMG00000022016	ENST00000372930.4:c.364G>A	X.37:g.100349805G>A	ENSP00000362021:p.Gly122Arg		Somatic					p.G122R	NM_021637	NP_067650	WXS	Illumina GAIIx	Phase_I	Q53FP2	TMM35_HUMAN			1	520	+			122					Q9H7Y3	Missense_Mutation	SNP	ENST00000372930.4	37	c.364G>A	CCDS14478.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037794	0.75617	.	.	ENSG00000126950	ENST00000372930;ENST00000444892	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69198	-0.5208	9	0.29301	T	0.29	-9.396	18.3931	0.90490	0.0:0.0:1.0:0.0	.	122	Q53FP2	TMM35_HUMAN	R	122;81	.	ENSP00000362021:G122R	G	+	1	0	TMEM35	100236461	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	9.194000	0.94962	2.284000	0.76573	0.594000	0.82650	GGA		0.557	TMEM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057508.1	NM_021637		17	131	0	0	0	1	0	17	131				
VLDLR	7436	broad.mit.edu	37	9	2635558	2635558	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr9:2635558A>G	ENST00000382100.3	+	2	544	c.188A>G	c.(187-189)gAt>gGt	p.D63G	RP11-125B21.2_ENST00000599229.1_RNA|VLDLR_ENST00000382099.2_Missense_Mutation_p.D63G	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	63	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GACGGCAGTGATGAAAAGAAC	0.373																																						uc003zhk.1																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(187-189)gAt>gGt		Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.							355.0	352.0	353.0					9																	2635558		2203	4300	6503	SO:0001583	missense	7436				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity	g.chr9:2635558A>G		CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.188A>G	9.37:g.2635558A>G	ENSP00000371532:p.Asp63Gly		Somatic				VLDLR_uc003zhl.1_Missense_Mutation_p.D63G|VLDLR_uc003zhm.1_Non-coding_Transcript	p.D63G	NM_003383	NP_003374	WXS	Illumina GAIIx	Phase_I	P98155	VLDLR_HUMAN		GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)	1	585	+			63			LDL-receptor class A 1.		B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	ENST00000382100.3	37	c.188A>G	CCDS6446.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.811618	0.90707	.	.	ENSG00000147852	ENST00000382100;ENST00000382096;ENST00000382099	D;D;D	0.99220	-5.58;-5.58;-5.58	5.96	5.96	0.96718	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.52532	D	0.000077	D	0.99729	0.9894	H	0.99238	4.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.96998	0.9727	10	0.87932	D	0	.	16.4277	0.83824	1.0:0.0:0.0:0.0	.	63;63;63	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	G	63	ENSP00000371532:D63G;ENSP00000371528:D63G;ENSP00000371531:D63G	ENSP00000371528:D63G	D	+	2	0	VLDLR	2625558	1.000000	0.71417	0.988000	0.46212	0.936000	0.57629	9.339000	0.96797	2.279000	0.76181	0.533000	0.62120	GAT		0.373	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383		5	140	0	0	0	1	0	5	140				
SHB	6461	broad.mit.edu	37	9	38068356	38068356	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EM-A1YC-01A-11D-A14W-08	TCGA-EM-A1YC-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eefaed71-8639-4351-aef8-a4e53835547b	597d2773-4613-4818-80c9-87ef2c6d2bc8	g.chr9:38068356delT	ENST00000377707.3	-	1	852	c.287delA	c.(286-288)tacfs	p.Y96fs	SHB_ENST00000377700.4_Frame_Shift_Del_p.Y96fs|RP11-613M10.9_ENST00000540557.1_Frame_Shift_Del_p.Y96fs	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	96	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		AGGCCCGTTGTAGGGGTCCTC	0.706																																						uc004aax.3																			0				central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11						c.(286-288)tacfs		Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.							9.0	12.0	11.0					9																	38068356		1890	4118	6008	SO:0001589	frameshift_variant	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:38068356delT		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.287delA	9.37:g.38068356delT	ENSP00000366936:p.Tyr96fs		Somatic					p.Y96fs	NM_003028	NP_003019	WXS	Illumina GAIIx	Phase_I	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	0	855	-		all_epithelial(88;0.122)	96			Mediates interaction with LAT, FAK1, JAK1 and JAK3.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Frame_Shift_Del	DEL	ENST00000377707.3	37	c.287delA	CCDS43806.1																																																																																				0.706	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			2	4						2	4	---	---	---	---
